These mice carry an ENU-induced mutation that is characterized by ataxia.
The Jackson Laboratory cannot guarantee that cryorecovery of strains from the discontinued NIH-funded Neuroscience Mutagenesis Facility (NMF) will be successful or that the anticipated phenotype or genotype will be obtained. The cryorecovery fee for this effort will not be refunded or prorated if the recovery is unsuccessful or is in any way unsatisfactory. Genotyping will be the responsibility of the Purchaser.Read More +
Two ataxic G3 mice were observed, and found to be non-productive, i.e. ovarian transplants and in vitro-fertilization efforts were unsuccessful. However, because of the similarity of their overt phenotype to Agtpbp1pcd (ATP/GTP binding protein 1, Purkinje cell degeneration) mutants, a complementation test with Agtpbp1pcd/+ was conducted (JR #537 B6.BR-Agtpbp1pcd/+). The results of 2 heterozygote by heterozygote matings, i.e. 3 affected mice in a total of 9 progeny, suggest that NMF243 represents an allele of Agtpbp1pcd. These heterozygotes eventually became non-productive (at approximately 18 months of age).
Standard pathology work-up on four mutants (31 - 153 days of age) revealed a loss of Purkinje cells in the cerebellum. In addition, a loss of mitral cells in the olfactory bulb, and degeneration of the ventral root of the spinal cord were noted in the older animal. Some small muscle fibers, as well as retinal degeneration with only seven layers of cells in the outer nuclear layer were also observed in this animal. One male animal (61 days of age) showed atrophic testes with no sperm production.
|Allele Name||Purkinje cell degeneration 6 Jackson|
|Allele Type||Chemically induced (ENU)|
|Gene Symbol and Name||Agtpbp1, ATP/GTP binding protein 1|
|Strain of Origin||C57BL/6|
|Molecular Note||A complementation test with Agtpbp1pcd mice suggested that this mutation represents a new allele of Agtpbp1.|